aandoening van spijsverteringsstelsel specifiek voor foetus of neonaat	aangeboren defect van stofwisseling	autosomaal dominante hereditaire aandoening	hereditaire aandoening van endocrien systeem	hereditaire aandoening van spijsverteringsstelsel	hyperammoniëmie	hyperinsulinisme
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syndroom van hyperinsulinisme en hyperammoniëmie (aandoening)
	syndroom van hyperinsulinisme en hyperammoniëmie
	HIHA-syndroom
	Hyperinsulinism and hyperammonemia syndrome
	Glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome GLUD1 related hyperinsulinism and hyperammonemia syndrome
	A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.

Id	718106009
Status	Primitive

Finding site	structuur van endocriene pancreas
Occurrence	congenitaal

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E16.1
Term	Overige gespecificeerde vormen van hypoglykemie

Target	E72.2
Term	Stofwisselingsstoornissen van ureumcyclus

SNOMED CT to Orphanet simple map

35878

SNOMED CT to ICD-10 extended map

Target	E16.1
Rule	TRUE
Advice	ALWAYS E16.1
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E72.2
Rule	TRUE
Advice	ALWAYS E72.2
Correlation	SNOMED CT source code to target map code correlation not specified